Abstract
Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy with onset in late childhood or adolescence. The first symptoms are usually myoclonic, tonic-clonic, occipital seizures, visual symptoms and decline in cognitive functions. Lafora disease accounts for 10% of patients with progressive myoclonic epilepsy. Here in we present a 14 year-old boy with tonic-clonic seizures followed at different hospital who was later admitted to our clinic with visual symptoms in the form of black spots, decline in school performance and decelaration of speech. The diagnosis was made with skin biopsy (showed the Lafora bodies) and genetic analysis (deletion of exon 1 in EPM2A gene).
Translated title of the contribution | Lafora disease and occipital lobe seizures: Case report |
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Original language | Turkish |
Pages (from-to) | 36-39 |
Number of pages | 4 |
Journal | Turkiye Klinikleri Pediatri |
Volume | 23 |
Issue number | 1 |
State | Published - Apr 16 2014 |
Keywords
- Delirium, dementia, amnestic, cognitive disorders
- Epilepsies, partial
- Lafora disease
- Myoclonic epilepsies
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health